Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01663:Tlr1'

103223

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tlr1

Ensembl Gene

ENSMUSG00000044827

Gene Name

toll-like receptor 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01663

Quality Score

Status

Chromosome

Chromosomal Location

65082022-65090906 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65082416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 720 (N720K)

Ref Sequence

ENSEMBL: ENSMUSP00000142500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059349] [ENSMUST00000197315]

AlphaFold

Q9EPQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059349
AA Change: N720K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000060793
Gene: ENSMUSG00000044827
AA Change: N720K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LRR	71	94	5.72e0	SMART
LRR	116	140	3.27e2	SMART
low complexity region	240	256	N/A	INTRINSIC
LRR	374	397	9.75e0	SMART
LRR	400	423	4.98e1	SMART
low complexity region	427	438	N/A	INTRINSIC
LRR	448	469	6.23e1	SMART
LRR	470	494	4.57e0	SMART
LRRCT	527	581	2.5e-11	SMART
transmembrane domain	583	605	N/A	INTRINSIC
TIR	639	782	4.03e-41	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197315
AA Change: N720K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142500
Gene: ENSMUSG00000044827
AA Change: N720K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LRR	71	94	5.72e0	SMART
Pfam:LRR_1	97	114	2.3e-2	PFAM
LRR	116	140	3.27e2	SMART
low complexity region	240	256	N/A	INTRINSIC
LRR	374	397	9.75e0	SMART
LRR	400	423	4.98e1	SMART
low complexity region	427	438	N/A	INTRINSIC
LRR	448	469	6.23e1	SMART
LRR	470	494	4.57e0	SMART
LRRCT	527	581	2.5e-11	SMART
transmembrane domain	583	605	N/A	INTRINSIC
TIR	639	782	4.03e-41	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display decreased macrophage peptoglycan-stimulated IL-6 production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,168,628 (GRCm39)	I1085V	possibly damaging	Het
Adamts16	T	C	13: 70,941,260 (GRCm39)	T376A	probably benign	Het
Aifm3	T	A	16: 17,320,650 (GRCm39)		probably null	Het
Ankrd16	A	G	2: 11,783,473 (GRCm39)	E25G	probably damaging	Het
Ano6	T	A	15: 95,865,495 (GRCm39)		probably null	Het
Cdh18	T	C	15: 23,446,077 (GRCm39)	I509T	possibly damaging	Het
Cdon	A	G	9: 35,394,510 (GRCm39)	T919A	possibly damaging	Het
Clca3a2	G	A	3: 144,522,916 (GRCm39)	P148L	probably damaging	Het
Dnph1	G	T	17: 46,809,408 (GRCm39)	R74L	probably benign	Het
Epha6	C	T	16: 59,596,007 (GRCm39)	A895T	probably damaging	Het
Exoc3l4	T	A	12: 111,395,845 (GRCm39)		probably benign	Het
Fbll1	A	G	11: 35,688,648 (GRCm39)	I205T	probably damaging	Het
Frem2	T	A	3: 53,424,434 (GRCm39)	H3001L	probably damaging	Het
Galk2	A	G	2: 125,825,099 (GRCm39)	N432D	probably benign	Het
Gm7535	A	C	17: 18,131,619 (GRCm39)		probably benign	Het
Il10	A	G	1: 130,949,151 (GRCm39)	E104G	probably benign	Het
Il1a	T	C	2: 129,146,637 (GRCm39)	K152R	probably benign	Het
Kdm1b	T	A	13: 47,227,213 (GRCm39)	N568K	probably damaging	Het
Kmt2c	A	C	5: 25,515,668 (GRCm39)	L2725R	probably damaging	Het
Krba1	G	T	6: 48,388,688 (GRCm39)	L527F	probably damaging	Het
Lrp2	A	G	2: 69,259,050 (GRCm39)	S4547P	probably benign	Het
Nin	G	T	12: 70,090,439 (GRCm39)	A992E	possibly damaging	Het
Or11g7	G	A	14: 50,690,607 (GRCm39)	V33M	probably benign	Het
Or5p81	T	A	7: 108,267,098 (GRCm39)	H158Q	probably benign	Het
Pcdhb1	A	G	18: 37,400,186 (GRCm39)	I712M	possibly damaging	Het
Prmt2	C	T	10: 76,053,143 (GRCm39)		probably null	Het
Rbm20	T	G	19: 53,829,426 (GRCm39)	V608G	probably damaging	Het
Smarcc2	C	T	10: 128,324,846 (GRCm39)		probably benign	Het
Speer3	A	T	5: 13,843,236 (GRCm39)	R48*	probably null	Het
Tnfrsf21	A	T	17: 43,398,702 (GRCm39)	M603L	probably benign	Het
Ttc3	T	A	16: 94,210,590 (GRCm39)		probably null	Het
Usp4	C	A	9: 108,243,079 (GRCm39)	A249E	possibly damaging	Het
Wdr20	T	A	12: 110,759,948 (GRCm39)	V278E	probably damaging	Het

Other mutations in Tlr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tlr1	APN	5	65,083,777 (GRCm39)	missense	probably benign	0.01
IGL01324:Tlr1	APN	5	65,082,522 (GRCm39)	missense	probably damaging	1.00
IGL01564:Tlr1	APN	5	65,083,189 (GRCm39)	missense	probably damaging	1.00
IGL01689:Tlr1	APN	5	65,083,122 (GRCm39)	missense	probably damaging	0.97
IGL01749:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL01751:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL01769:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL01899:Tlr1	APN	5	65,084,359 (GRCm39)	missense	probably damaging	0.97
IGL02197:Tlr1	APN	5	65,083,797 (GRCm39)	missense	probably damaging	1.00
IGL02295:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL02308:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL02309:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL02311:Tlr1	APN	5	65,083,290 (GRCm39)	nonsense	probably null
IGL02591:Tlr1	APN	5	65,084,059 (GRCm39)	missense	probably damaging	1.00
IGL02739:Tlr1	APN	5	65,084,469 (GRCm39)	missense	probably benign	0.41
IGL03206:Tlr1	APN	5	65,082,400 (GRCm39)	missense	probably damaging	0.99
IGL03055:Tlr1	UTSW	5	65,083,939 (GRCm39)	missense	probably benign	0.05
R0315:Tlr1	UTSW	5	65,084,271 (GRCm39)	missense	probably damaging	0.99
R0317:Tlr1	UTSW	5	65,083,310 (GRCm39)	nonsense	probably null
R0511:Tlr1	UTSW	5	65,083,963 (GRCm39)	missense	probably damaging	0.98
R1539:Tlr1	UTSW	5	65,084,319 (GRCm39)	missense	probably damaging	1.00
R1552:Tlr1	UTSW	5	65,084,203 (GRCm39)	missense	probably damaging	1.00
R1835:Tlr1	UTSW	5	65,083,043 (GRCm39)	missense	probably benign	0.01
R1933:Tlr1	UTSW	5	65,082,781 (GRCm39)	missense	possibly damaging	0.94
R1956:Tlr1	UTSW	5	65,082,520 (GRCm39)	missense	probably damaging	1.00
R2099:Tlr1	UTSW	5	65,082,411 (GRCm39)	missense	probably damaging	1.00
R2507:Tlr1	UTSW	5	65,082,639 (GRCm39)	missense	probably damaging	1.00
R2508:Tlr1	UTSW	5	65,082,639 (GRCm39)	missense	probably damaging	1.00
R2937:Tlr1	UTSW	5	65,083,251 (GRCm39)	missense	probably damaging	0.96
R2938:Tlr1	UTSW	5	65,083,251 (GRCm39)	missense	probably damaging	0.96
R3033:Tlr1	UTSW	5	65,082,912 (GRCm39)	missense	probably damaging	1.00
R4164:Tlr1	UTSW	5	65,084,545 (GRCm39)	missense	possibly damaging	0.47
R4226:Tlr1	UTSW	5	65,083,060 (GRCm39)	missense	probably damaging	0.96
R4366:Tlr1	UTSW	5	65,083,180 (GRCm39)	missense	probably benign	0.00
R5009:Tlr1	UTSW	5	65,083,567 (GRCm39)	missense	probably damaging	1.00
R5029:Tlr1	UTSW	5	65,083,024 (GRCm39)	missense	probably damaging	0.97
R5069:Tlr1	UTSW	5	65,083,743 (GRCm39)	missense	probably benign	0.01
R5186:Tlr1	UTSW	5	65,082,564 (GRCm39)	missense	probably damaging	1.00
R5336:Tlr1	UTSW	5	65,083,145 (GRCm39)	missense	probably damaging	1.00
R5500:Tlr1	UTSW	5	65,084,441 (GRCm39)	missense	probably benign	0.08
R5503:Tlr1	UTSW	5	65,083,635 (GRCm39)	missense	probably damaging	0.99
R5577:Tlr1	UTSW	5	65,083,428 (GRCm39)	missense	possibly damaging	0.94
R6141:Tlr1	UTSW	5	65,082,556 (GRCm39)	missense	possibly damaging	0.92
R6210:Tlr1	UTSW	5	65,082,629 (GRCm39)	missense	probably damaging	1.00
R6238:Tlr1	UTSW	5	65,084,472 (GRCm39)	missense	possibly damaging	0.86
R6284:Tlr1	UTSW	5	65,084,442 (GRCm39)	missense	possibly damaging	0.93
R6311:Tlr1	UTSW	5	65,084,188 (GRCm39)	missense	probably damaging	0.99
R7021:Tlr1	UTSW	5	65,083,056 (GRCm39)	missense	possibly damaging	0.75
R7140:Tlr1	UTSW	5	65,083,021 (GRCm39)	missense	probably benign	0.01
R7234:Tlr1	UTSW	5	65,084,067 (GRCm39)	missense	probably damaging	0.96
R7278:Tlr1	UTSW	5	65,084,115 (GRCm39)	missense	probably benign	0.03
R7378:Tlr1	UTSW	5	65,082,571 (GRCm39)	missense	not run
R7652:Tlr1	UTSW	5	65,084,130 (GRCm39)	nonsense	probably null
R7781:Tlr1	UTSW	5	65,084,079 (GRCm39)	missense	possibly damaging	0.94
R7783:Tlr1	UTSW	5	65,082,264 (GRCm39)	missense	probably damaging	1.00
R7851:Tlr1	UTSW	5	65,082,307 (GRCm39)	missense	possibly damaging	0.58
R8546:Tlr1	UTSW	5	65,084,374 (GRCm39)	missense	probably damaging	0.99
R8696:Tlr1	UTSW	5	65,084,094 (GRCm39)	missense	probably benign	0.00
R8744:Tlr1	UTSW	5	65,083,873 (GRCm39)	missense	possibly damaging	0.77
R9086:Tlr1	UTSW	5	65,083,198 (GRCm39)	missense	probably damaging	1.00
R9160:Tlr1	UTSW	5	65,083,653 (GRCm39)	missense	probably benign	0.00
R9199:Tlr1	UTSW	5	65,083,534 (GRCm39)	missense	possibly damaging	0.87
R9778:Tlr1	UTSW	5	65,083,371 (GRCm39)	missense	probably damaging	1.00
X0067:Tlr1	UTSW	5	65,083,918 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21